The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3.

doi:10.1007/s004390051045

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Article

The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3.

Human genetics - 1 Mar 2000

Richard G, Brown N, Smith L E, Terrinoni A, Melino G, Mackie R M, Bale S J, Uitto J

Abstract excerpt

Intercellular channels in skin are a complex and functionally diverse system formed by at least eight connexins (Cx). Our recent molecular studies implicating Cx defects in inherited skin disorders emphasize the critical role of this signaling pathway in epidermal differentiation. Erythrokeratodermia variabilis (EKV) is an autosomal dominant genodermatosis with a striking phenotype characterized by the...

Topics

Connexins
DNA Mutational Analysis
Erythema
Female
Genes, Dominant
Genotype
Humans
Keratosis
Male
Mutation
Pedigree
Phenotype
Skin Diseases

Source

Open in PubMed

Identifiers

PMID: 10798362
DOI: 10.1007/s004390051045

Genes

GJB3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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